Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19896 | 59911;59912;59913 | chr2:178592218;178592217;178592216 | chr2:179456945;179456944;179456943 |
| N2AB | 18255 | 54988;54989;54990 | chr2:178592218;178592217;178592216 | chr2:179456945;179456944;179456943 |
| N2A | 17328 | 52207;52208;52209 | chr2:178592218;178592217;178592216 | chr2:179456945;179456944;179456943 |
| N2B | 10831 | 32716;32717;32718 | chr2:178592218;178592217;178592216 | chr2:179456945;179456944;179456943 |
| Novex-1 | 10956 | 33091;33092;33093 | chr2:178592218;178592217;178592216 | chr2:179456945;179456944;179456943 |
| Novex-2 | 11023 | 33292;33293;33294 | chr2:178592218;178592217;178592216 | chr2:179456945;179456944;179456943 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs763331392  |
None | 1.0 | D | 0.742 | 0.513 | 0.733941746038 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs763331392 |
None | 1.0 | D | 0.742 | 0.513 | 0.733941746038 | gnomAD-4.0.0 | 1.86151E-06 | None | None | None | None | N | None | 4.00737E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs763331392 |
-0.499 | 0.999 | N | 0.553 | 0.427 | 0.588531137712 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.72652E-04 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs763331392 |
-0.499 | 0.999 | N | 0.553 | 0.427 | 0.588531137712 | gnomAD-4.0.0 | 3.42562E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.01595E-04 | None | 0 | 0 | 0 | 0 | 1.65909E-05 |
| L/P | None | None | 1.0 | D | 0.923 | 0.797 | 0.899515079864 | gnomAD-4.0.0 | 3.42549E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50059E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9679 | likely_pathogenic | 0.968 | pathogenic | -2.509 | Highly Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| L/C | 0.9164 | likely_pathogenic | 0.9223 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| L/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.141 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| L/E | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -2.818 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| L/F | 0.6531 | likely_pathogenic | 0.6363 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.542612441 | None | None | N |
| L/G | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -3.096 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| L/H | 0.9949 | likely_pathogenic | 0.9948 | pathogenic | -2.946 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.555236194 | None | None | N |
| L/I | 0.1114 | likely_benign | 0.1156 | benign | -0.729 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.484293069 | None | None | N |
| L/K | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| L/M | 0.3396 | likely_benign | 0.3335 | benign | -0.916 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| L/N | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.418 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| L/P | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.555236194 | None | None | N |
| L/Q | 0.9922 | likely_pathogenic | 0.9923 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| L/R | 0.9925 | likely_pathogenic | 0.9926 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.555236194 | None | None | N |
| L/S | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -2.869 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| L/T | 0.9809 | likely_pathogenic | 0.9821 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| L/V | 0.1445 | likely_benign | 0.1615 | benign | -1.316 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.472337198 | None | None | N |
| L/W | 0.9816 | likely_pathogenic | 0.9792 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/Y | 0.984 | likely_pathogenic | 0.9817 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.